Canonical Allele Identifier: CA005829

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 52986
• ClinVar RCV Id: RCV000577184 ; RCV000617855
• dbSNP Id: rs397508093
• MyVariant Identifiers: chr11:g.2683312G>A (hg19) ; chr11:g.2662082G>A (hg38)
• PubMed: PMID:16414944

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662082G>A , CM000673.2:g.2662082G>A	GRCh38
NC_000011.9:g.2683312G>A , CM000673.1:g.2683312G>A	GRCh37
NC_000011.8:g.2639888G>A	NCBI36
NG_008935.1:g.222092G>A , LRG_287:g.222092G>A
NG_016178.2:g.42917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+1G>A (KCNQ1)	ENSP00000434560.2:n.1157+1G>A
ENST00000646564.2:c.974+1G>A (KCNQ1)	ENSP00000495806.2:n.974+1G>A
ENST00000155840.12:c.1514+1G>A (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+1G>A
ENST00000335475.6:c.1133+1G>A (KCNQ1)	ENSP00000334497.5:n.1133+1G>A
ENST00000646564.1:c.620+1G>A (KCNQ1)	ENSP00000495806.1:n.620+1G>A
ENST00000155840.9:c.1514+1G>A (KCNQ1)	ENSP00000155840.2:n.1514+1G>A
ENST00000335475.5:c.1133+1G>A (KCNQ1)	ENSP00000334497.5:n.1133+1G>A
NM_000218.2:c.1514+1G>A , LRG_287t1:c.1514+1G>A (KCNQ1)	NP_000209.2:n.1514+1G>A
NM_181798.1:c.1133+1G>A , LRG_287t2:c.1133+1G>A (KCNQ1)	NP_861463.1:n.1133+1G>A
NR_002728.3:n.37917C>T (KCNQ1OT1)
NM_000218.3:c.1514+1G>A (KCNQ1) MANE Select	NP_000209.2:n.1514+1G>A